Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
X | 77633315 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 3 | 9741340 | frameshift variant | AG/T | delins |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins |
|
0.700 | 0 |